Canonical Allele Identifier: CA413448358
Gene: EDA HGNC NCBI

Linked Data

gnomAD v4: X-70027947-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027947C>A , CM000685.2:g.70027947C>A GRCh38
NC_000023.10:g.69247797C>A , CM000685.1:g.69247797C>A GRCh37
NC_000023.9:g.69164522C>A NCBI36
NG_009809.1:g.416887C>A
NG_009809.2:g.416881C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.617C>A MANE Select ENSP00000363680.4:p.Pro206His
ENST00000374552.8:c.617C>A ENSP00000363680.4:p.Pro206His
ENST00000374553.6:c.617C>A ENSP00000363681.2:p.Pro206His
ENST00000503592.5:c.221C>A ENSP00000423037.1:p.Pro74His
ENST00000524573.5:c.617C>A ENSP00000432585.1:p.Pro206His
ENST00000616899.1:c.221C>A ENSP00000481963.1:p.Pro74His
NM_001005609.1:c.617C>A NP_001005609.1:p.Pro206His
NM_001005612.2:c.617C>A NP_001005612.2:p.Pro206His
NM_001399.4:c.617C>A NP_001390.1:p.Pro206His
XM_006724630.2:c.617C>A XP_006724693.1:p.Pro206His
XM_011530885.1:c.617C>A XP_011529187.1:p.Pro206His
XM_011530885.2:c.617C>A XP_011529187.1:p.Pro206His
XM_017029336.1:c.617C>A XP_016884825.1:p.Pro206His
NM_001399.5:c.617C>A MANE Select NP_001390.1:p.Pro206His
NM_001005609.2:c.617C>A NP_001005609.1:p.Pro206His
NM_001005612.3:c.617C>A NP_001005612.2:p.Pro206His